some Familial Isolated Primary Hyperparathyroidism (FIHP) families have been mapped to this locus

Inheritance

autosomal dominant, early onset, highly penetrant, reported in caucasians and Japanese so far

Clinics

Note

phenotypic spectrum variable

growth: normal

head: normal

skin: normal

hyperparathyroidism, jaw tumors, and kidney cysts

hyperparathyroidism develops in about 95% of affected individuals due to parathyroid adenomas which can occur singley or multiply, with some patients undergoing several parathyroidectomies over the course of their lives

parathyroid carcinoma develops in about 5% of patients (compare to 1 in 5 million in the general population)

the jaw tumors consist of trabeculae of woven bone set in a cytologically bland fibrocellular stroma

about 50% develop fibro-osseous tumors of the maxilla or mandible, which may recur and are independent of the course of the parathyroid adenomas